Molecular subtypes of a bladder cancer: evolution of classifications and clinical significance

Abstract

Molecular subtypes of a bladder cancer: evolution of classifications and clinical significance

Author Biographies

O. N. Sulaieva, Pathomorphological Laboratory CSD, Kyiv

Sulaieva Oksana – MD, DSci(Med), professor,
director for research,
Laboratory of Pathology CSD Health Care,
Kyiv, Vasylkivska str., 45.
o.sulaieva@csd.com.ua
http://orcid.org/0000-0002-9614-4652

A. A. Seleznov, Pathomorphological Laboratory CSD, Kyiv

Seleznov Oleksii – MD, PhD(Med), associate professor, senior pathologist,
Laboratory of Pathology CSD,
Kyiv, Vasylkivska str., 45.
oleksii.seleznov@csd.com.ua
https://orcid.org/0000-0002-9950-9418

D. A. Shapochka, Pathomorphological Laboratory CSD, Kyiv

Shapochka Dmytro – MD, molecular genetics, deputy director for research,
Laboratory of Pathology CSD,
Kyiv, Vasylkivska str., 45.
d.shapochka@csd.com.ua
https://orcid.org/0000-0001-5744-7872

A. E. Stakhovskiy, National Cancer Institute, Kyiv

Stakhovskiy Oleksandr – MD, PhD(Med), senior researcher,
Department of plastic and reconstructive oncourology,
National Intitute of Cancer,
Kyiv, Lomonosova str., 33/43. stakhovsky9@gmail.com
https://orcid.org/0000-0002-7528-551X

R. N. Ponomarchuk, Pathomorphological Laboratory CSD, Kyiv

Ponomarchuk Roman – MD, pathologist,
Laboratory of Pathology CSD,
Kyiv, Vasylkivska str., 45.
r.ponomarchuk@csd.com.ua
https://orcid.org/0000-0002-8620-6362

P. N. Botsun, Pathomorphological Laboratory CSD, Kyiv

Botsun Pavlina – MD, head of cytology division,
Laboratory of Pathology CSD,
Kyiv, Vasylkivska str., 45.
p.botsun@csd.com.ua
https://orcid.org/0000-0002-4817-7150

References

Aine M, Eriksson P, Liedber F, Sjödahl G, Höglund M. Biological determinants of bladder cancer gene expression subtypes. Sci Rep. 2015;5:10957. doi: 10.1038/srep10957.

Knowles MA, Hurst CD. Molecular biology of bladder cancer: new insights into pathogenesis and clinical diversity. Nat Rev Cancer. 2015;15(1):25–41. doi: 10.1038/nrc3817.

Bernardo C, Eriksson P, Marzouka N, Liedberg F, Sjödahl G, Höglund M. Molecular pathology of the luminal class of urothelial tumors. J Pathol. 2019;249(3):308–18. doi: 10.1002/path.5318.

Aine M, Eriksson P, Liedberg F, Höglund M, Sjödahl G. On Molecular Classification of Bladder Cancer: Out of One, Many. Eur Urol. 2015;68(6):921–3. doi: 10.1016/j.eururo.2015.07.021.

Lerner SP, McConkey DJ, Hoadley KA, Chan KS, Kim WY, Radvanyi F, et al. Bladder cancer molecular taxonomy: summary from a consensus meeting. Bladder Cancer. 2016;2(1):37–47. doi: 10.3233/BLC-150037.

Weinstein J, Akbani R, Broom B, Wang W, Verhaak RGW, McConkey D, et al. Comprehensive molecular characterization of urothelial bladder carcinoma. Nature. 2014;507(7492):315–22 doi:10.1038/nature12965.

McConkey DJ, Choi W, Dinney CP. New insights into subtypes of invasive bladder cancer: Considerations of the clinician. Eur Urol. 2014;66(4):609–10. doi: 10.1016/j.eururo.2014.05.006.

Damrauer JS, Hoadley KA, Chism DD, Fan C, Tiganelli CJ, Wobker SE, et al. Intrinsic subtypes of high-grade bladder cancer reflect the hallmarks of breast cancer biology. Proc Natl Acad Sci USA. 2014;111(8):3110–15. doi: 10.1073/pnas.1318376111.

Sulaieva ON, Stakhovskiy OE, Shapochka DO, Seleznev AA. Molecular pathology of urothelial carcinoma: prognostic and predictive biomarkers. Practical oncology. 2019;2(4):29-40. doi: 10.22141/2663-3272.2.4.2019.195. [In Ukrainian].

Mo Q, Nikolos F, Chen F, Tramel Z, Lee Y-C, Hayashi K, et al. Prognostic Power of a Tumor Differentiation Gene Signature for Bladder Urothelial Carcinomas. J. Natl. Cancer Inst. 2018;110(5):448-59. doi: 10.1093/jnci/djx243.

Biton A, Bernard-Pierrot I, Lou Y, Krucker C, Chapeaublanc E, Rubio-Pérez C, López-Bigas N, et al. Independent analysis uncovers the landscape of the bladder tumor transcriptome and reveals insights into luminal and basal subtypes. Cell Rep. 2014;9(4):1235–45. doi: 10.1016/j.celrep.2014.10.035.

Eriksson P, Aine M, Veerla V, Liedberg F, Sjödahl G, Höglund M. Molecular subtypes of urothelial carcinoma are defined by specific gene regulatory systems. BMC Medical Genomics. 2015;8:25. doi: 10.1186/s12920-015-0101-5.

Sjödahl G, Lövgren K, Lauss M, Patschan O, Gudjonsson S, Chebil G, et al. Toward a molecular pathologic classification of urothelial carcinoma. Am J Pathol. 2013;183(3):681–91. doi: 10.1016/j.ajpath.2013.05.013.

Fishwick C, Higgins J, Percival-Alwyn L, Hustler A, Pearson J, Bastkowski S, et al. Heterarchy of transcription factors driving basal and luminal cell phenotypes in human urothelium. Cell Death Differ. 2017;24(5):809–18. doi: 10.1038/cdd.2017.10.

Warrick JI, Sjödahl G, Kaag M, Raman JD, Merrill S, Shuman L, et al. Intratumoral Heterogeneity of Bladder Cancer by Molecular Subtypes and Histologic Variants. Eur Urol. 2019;75(1):18-22. doi: 10.1016/j.eururo.2018.09.003. doi: 10.1016/j.eururo.2018.09.003.

Chan KS, Espinosa I, Chao M, Wong D, Ailles L, Diehn M, et al. Identification, molecular characterization, clinical prognosis, and therapeutic targeting of human bladder tumor-initiating cells. Proc Natl Acad Sci USA 2009;106(33):14016–21. doi: 10.1073/pnas.0906549106.

Choi W, Porten S, Kim SS, Willis D, Plimack ER, Hoffman-Censits J, et al. Identification of Distinct Basal and Luminal Subtypes of Muscle-Invasive Bladder Cancer with Different Sensitivities to Frontline Chemotherapy. Cancer Cell. 2014;25:152–65. doi: 10.1016/j.ccr.2014.01.009.

Hurst CD, Platt FM, Taylor CF, Knowles MA. Novel tumor subgroups of urothelial carcinoma of the bladder defined by integrated genomic analysis. Clin Cancer Res. 2012;18(21):5865–77. doi: 10.1158/1078-0432.CCR-12-1807.

Choi W, Czerniak B, Ochoa A, Su X, Siefker-Radtke A, Dinney C, et al. Intrinsic basal and luminal subtypes of muscle-invasive bladder cancer. Nat Rev Urol. 2014;11(7):400–10. doi: 10.1038/nrurol.2014.129.

Sjödahl G. Molecular Subtype Profiling of Urothelial Carcinoma Using a Subtype-Specific Immunohistochemistry Panel. Methods Mol Biol. 2018;1655:53-64. doi: 10.1007/978-1-4939-7234-0_5. doi: 10.1007/978-1-4939-7234-0_5.

Thomsen MBH, Nordentoft I, Lamy P, Vang S, Reinert L, Mapendano CK, et al. Comprehensive multiregional analysis of molecular heterogeneity in bladder cancer. Sci. Rep. 2017;7(1):11702. doi: 10.1038/s41598-017-11291-0.

Lindgren D, Sjödahl G, Lauss M, Staaf J, Chebil G, Lövgren K, et al. Integrated genomic and gene expression profiling identifies two major genomic circuits in urothelial carcinoma. PLoS One. 2012;7(6):e38863. doi: 10.1371/journal.pone.0038863.

Robertson AG, Kim J, Al-Ahmadie H, Bellmunt J, Guo G, Cherniack AD, et al. Comprehensive Molecular Characterization of Muscle-Invasive Bladder Cancer. Cell. 2017;174(4):540–56.e25. doi: 10.1016/j.cell.2018.07.036.

Hedegaard J, Lamy P, Nordentoft I, Algaba F, Høyer S, Ulhøi BP, et al. Comprehensive transcriptional analysis of early‐stage urothelial carcinoma. Cancer Cell. 2016;30(1):27–42. doi: 10.1016/j.ccell.2016.05.004.

Hurst CD, Alder O, Platt FM, Droop A, Stead LF, Burns JE, et al. Genomic subtypes of non-invasive bladder cancer with distinct metabolic profile and female gender bias in KDM6A mutation frequency. Cancer Cell. 2017;32(5):701–15. doi: 10.1016/j.ccell.2017.08.005.

Sjödahl G, Lauss M, Lovgren K, Chebil G, Gudjonsson S, Veerla S, et al. A molecular taxonomy for urothelial carcinoma. Clin Cancer Res. 2012;18(12):3377–86. doi: 10.1158/1078-0432.CCR-12-0077-T.

Sjödahl G, Eriksson P, Liedberg F, Höglund M. Molecular classification of urothelial carcinoma: global mRNA classification versus tumour-cell phenotype classification. J Pathol. 2017;242(1):113-25. doi: 10.1002/path.4886. doi: 10.1002/path.4886.

Ho PL, Kurtova A, Chan KS. Normal and neoplastic urothelial stem cells: Getting to the root of the problem. Nat Rev Urol. 2012;9(10):583–94. doi: 10.1038/nrurol.2012.142.

Volkmer JP, Sahoo D, Chin RK, Ho PL, Tang C, Kurtova AV, et al. Three differentiation states risk-stratify bladder cancer into distinct subtypes. Proc Natl Acad Sci USA 2012;109(6):2078–83. doi:10.1073/pnas.1120605109

Adam RM, DeGraff DJ. Molecular mechanisms of squamous differentiation in urothelial cell carcinoma: A paradigm for molecular subtyping of urothelial cell carcinoma of the bladder. Urol Oncol. 2015: 33(10):444-50. doi: 10.1016/j.urolonc.2015.06.006.

Tan TZ, Rouanne M, Tan KT, Huang RY-J, Thiery J-P. Molecular Subtypes of Urothelial Bladder Cancer: Results from a Meta-cohort Analysis of 2411 Tumors. Eur. Urol. 2019;75(3):423–32. doi: 10.1016/j.eururo.2018.08.027.

Seiler R, Ashab HAD, Erho N, Rhijn BWG., Winters B, Douglas J, et al. Impact of Molecular Subtypes in Muscle-invasive Bladder Cancer on Predicting Response and Survival after Neoadjuvant Chemotherapy. Eur Urol. 2017;72(4):544–54. doi: 10.1016/j.eururo.2017.03.030.

Koga F, Takemura K, Fukushima H. Biomarkers for Predicting Clinical Outcomes of Chemoradiation-Based Bladder Preservation Therapy for Muscle-Invasive Bladder Cancer. Int J Mol Sci. 2018;19(9):E2777. doi: 10.3390/ijms19092777.

Patschan O, Sjödahl G, Chebil G, Lövgren K, Lauss M, Gudjonsson S, et al. A Molecular Pathologic Framework for Risk Stratification of Stage T1 Urothelial Carcinoma. Eur Urol. 2015;68(5):824-32. doi: 10.1016/j.eururo.2015.02.021.

Rodriguez PMDC, Chaux A, Eich ML, Tregnago AC, Taheri D, Borhan W, et al. Immunohistochemical assessment of basal and luminal markers in non-muscle invasive urothelial carcinoma of bladder. Virchows Arch. 2019;475(3):349-56. doi: 10.1007/s00428-019-02618-5.

Marzouka N, Eriksson P, Rovira C, Liedberg F, Sjödahl G, Höglund MA. Validation and extended description of the Lund taxonomy for urothelial carcinoma using the TCGA cohort. Sci Rep. 2018;8(1):3737. doi: 10.1038/s41598-018-22126-x.

Kim J, Kwiatkowski D, McConkey DJ, Meeks JJ, Freeman SS, Bellmunt J, et al. The Cancer Genome Atlas Expression Subtypes Stratify Response to Checkpoint Inhibition in Advanced Urothelial Cancer and Identify a Subset of Patients with High Survival Probability. Eur Urol. 2019;75(6):961-64. doi: 10.1016/j.eururo.2019.02.017.

Todenhöfer T, Seiler R. Molecular subtypes and response to immunotherapy in bladder cancer patients. Transl Androl Urol. 2019;8(Suppl 3):S293-S295. doi: 10.21037/tau.2019.06.21.

Kamoun A, de Reyniès A, Allory Y, Sjödahl G, Robertson AG, Seiler R, et al. A consensus molecular classification of muscle-invasive bladder cancer European urology. 2019:pii:S0302-2838(19)30695-5. doi: 10.1101/488460

McConkey DJ, Choi W. Molecular Subtypes of Bladder Cancer. Curr Oncol Rep. 2018;20(10):77. doi: 10.1007/s11912-018-0727-5.

Satyal U, Sikder RK, McConkey D, Plimack ER, Abbosh PH. Clinical implications of molecular subtyping in bladder cancer. Curr Opin Urol. 2019;29(4):350–56. doi: 10.1097/MOU.0000000000000641.

Yoshihara K, Shahmoradgoli M, Martínez E, Vegesna R, Kim H, Torres-Garcia W, et al. Inferring tumour purity and stromal and immune cell admixture from expression data. Nat Commun. 2013;4:2612. doi: 10.1038/ncomms3612.

Song D, Powles T, Shi L, Lirong Z, Ingersoll MA, Lu YL. Bladder cancer, a unique model to understand cancer immunity and develop immunotherapy approaches. J Pathol. 2019; 249(2):151–65. doi: 10.1002/path.5306.

Published
2020-05-26